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GRCh38/hg38 22q11.22-11.23(chr22:22655333-23310325)x1 AND See cases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 27, 2013
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000143461.6

Allele description [Variation Report for GRCh38/hg38 22q11.22-11.23(chr22:22655333-23310325)x1]

GRCh38/hg38 22q11.22-11.23(chr22:22655333-23310325)x1

Genes:
  • LOC130067057:ATAC-STARR-seq lymphoblastoid active region 18724 [Gene]
  • LOC130067058:ATAC-STARR-seq lymphoblastoid active region 18725 [Gene]
  • LOC130067059:ATAC-STARR-seq lymphoblastoid active region 18726 [Gene]
  • LOC130067060:ATAC-STARR-seq lymphoblastoid active region 18727 [Gene]
  • LOC130067061:ATAC-STARR-seq lymphoblastoid active region 18728 [Gene]
  • LOC130067062:ATAC-STARR-seq lymphoblastoid active region 18729 [Gene]
  • LOC130067063:ATAC-STARR-seq lymphoblastoid active region 18730 [Gene]
  • LOC130067065:ATAC-STARR-seq lymphoblastoid active region 18731 [Gene]
  • LOC130067066:ATAC-STARR-seq lymphoblastoid active region 18732 [Gene]
  • LOC130067067:ATAC-STARR-seq lymphoblastoid active region 18733 [Gene]
  • LOC130067068:ATAC-STARR-seq lymphoblastoid active region 18734 [Gene]
  • LOC130067069:ATAC-STARR-seq lymphoblastoid active region 18735 [Gene]
  • LOC130067070:ATAC-STARR-seq lymphoblastoid active region 18736 [Gene]
  • LOC130067071:ATAC-STARR-seq lymphoblastoid active region 18737 [Gene]
  • LOC130067073:ATAC-STARR-seq lymphoblastoid active region 18738 [Gene]
  • LOC130067074:ATAC-STARR-seq lymphoblastoid active region 18739 [Gene]
  • LOC130067075:ATAC-STARR-seq lymphoblastoid active region 18740 [Gene]
  • LOC130067076:ATAC-STARR-seq lymphoblastoid active region 18741 [Gene]
  • LOC130067078:ATAC-STARR-seq lymphoblastoid active region 18742 [Gene]
  • LOC130067079:ATAC-STARR-seq lymphoblastoid active region 18743 [Gene]
  • LOC130067080:ATAC-STARR-seq lymphoblastoid active region 18744 [Gene]
  • LOC130067083:ATAC-STARR-seq lymphoblastoid active region 18746 [Gene]
  • LOC130067084:ATAC-STARR-seq lymphoblastoid active region 18747 [Gene]
  • LOC130067086:ATAC-STARR-seq lymphoblastoid active region 18748 [Gene]
  • LOC130067087:ATAC-STARR-seq lymphoblastoid active region 18749 [Gene]
  • LOC129929043:ATAC-STARR-seq lymphoblastoid active region 18750 [Gene]
  • LOC129869693:ATAC-STARR-seq lymphoblastoid active region 18751 [Gene]
  • LOC130067092:ATAC-STARR-seq lymphoblastoid active region 18753 [Gene]
  • LOC129929044:ATAC-STARR-seq lymphoblastoid active region 18754 [Gene]
  • LOC129929045:ATAC-STARR-seq lymphoblastoid active region 18755 [Gene]
  • LOC130067064:ATAC-STARR-seq lymphoblastoid silent region 13527 [Gene]
  • LOC130067072:ATAC-STARR-seq lymphoblastoid silent region 13528 [Gene]
  • LOC130067077:ATAC-STARR-seq lymphoblastoid silent region 13529 [Gene]
  • LOC130067081:ATAC-STARR-seq lymphoblastoid silent region 13530 [Gene]
  • LOC130067082:ATAC-STARR-seq lymphoblastoid silent region 13531 [Gene]
  • LOC130067085:ATAC-STARR-seq lymphoblastoid silent region 13532 [Gene]
  • LOC130067088:ATAC-STARR-seq lymphoblastoid silent region 13533 [Gene]
  • LOC130067089:ATAC-STARR-seq lymphoblastoid silent region 13534 [Gene]
  • LOC130067090:ATAC-STARR-seq lymphoblastoid silent region 13535 [Gene]
  • LOC130067091:ATAC-STARR-seq lymphoblastoid silent region 13536 [Gene]
  • LOC129869694:ATAC-STARR-seq lymphoblastoid silent region 13538 [Gene]
  • BCR:BCR activator of RhoGEF and GTPase [Gene - OMIM - HGNC]
  • LOC107963955:BCR-ABL major-breakpoint cluster region [Gene]
  • LOC107963951:BCR-ABL minor-breakpoint cluster region [Gene]
  • LOC107966121:BCR-ABL p195 breakpoint cluster region [Gene]
  • LOC107963947:BCR-ABL p200 breakpoint cluster region [Gene]
  • GNAZ:G protein subunit alpha z [Gene - OMIM - HGNC]
  • RAB36:RAB36, member RAS oncogene family [Gene - OMIM - HGNC]
  • LOC108491832:RAB36-BCR intergenic enhancer-blocking element 22-1 [Gene]
  • LOC121853036:Sharpr-MPRA regulatory region 5876 [Gene]
  • LOC121853035:Sharpr-MPRA regulatory region 7478 [Gene]
  • IGLC1:immunoglobulin lambda constant 1 [Gene - OMIM - HGNC]
  • IGLC2:immunoglobulin lambda constant 2 [Gene - HGNC]
  • IGLC3:immunoglobulin lambda constant 3 (Kern-Oz+ marker) [Gene - HGNC]
  • IGLC7:immunoglobulin lambda constant 7 [Gene - HGNC]
  • IGLJ1:immunoglobulin lambda joining 1 [Gene - HGNC]
  • IGLJ2:immunoglobulin lambda joining 2 [Gene - HGNC]
  • IGLJ3:immunoglobulin lambda joining 3 [Gene - HGNC]
  • IGLJ4:immunoglobulin lambda joining 4 (non-functional) [Gene - HGNC]
  • IGLJ5:immunoglobulin lambda joining 5 (non-functional) [Gene - HGNC]
  • IGLJ6:immunoglobulin lambda joining 6 [Gene - HGNC]
  • IGLJ7:immunoglobulin lambda joining 7 [Gene - HGNC]
  • IGLL5:immunoglobulin lambda like polypeptide 5 [Gene - HGNC]
  • IGL:immunoglobulin lambda locus [Gene - HGNC]
  • IGLV2-11:immunoglobulin lambda variable 2-11 [Gene - HGNC]
  • IGLV2-14:immunoglobulin lambda variable 2-14 [Gene - HGNC]
  • IGLV2-18:immunoglobulin lambda variable 2-18 [Gene - HGNC]
  • IGLV2-23:immunoglobulin lambda variable 2-23 [Gene - HGNC]
  • IGLV2-8:immunoglobulin lambda variable 2-8 [Gene - HGNC]
  • IGLV3-10:immunoglobulin lambda variable 3-10 [Gene - HGNC]
  • IGLV3-12:immunoglobulin lambda variable 3-12 [Gene - HGNC]
  • IGLV3-16:immunoglobulin lambda variable 3-16 [Gene - HGNC]
  • IGLV3-19:immunoglobulin lambda variable 3-19 [Gene - HGNC]
  • IGLV3-1:immunoglobulin lambda variable 3-1 [Gene - HGNC]
  • IGLV3-21:immunoglobulin lambda variable 3-21 [Gene - HGNC]
  • IGLV3-22:immunoglobulin lambda variable 3-22 [Gene - HGNC]
  • IGLV3-25:immunoglobulin lambda variable 3-25 [Gene - HGNC]
  • IGLV3-27:immunoglobulin lambda variable 3-27 [Gene - HGNC]
  • IGLV3-9:immunoglobulin lambda variable 3-9 [Gene - HGNC]
  • IGLV4-3:immunoglobulin lambda variable 4-3 [Gene - HGNC]
  • MIR5571:microRNA 5571 [Gene - HGNC]
  • MIR650:microRNA 650 [Gene - OMIM - HGNC]
  • RSPH14:radial spoke head 14 homolog [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
22q11.22-11.23
Genomic location:
Preferred name:
GRCh38/hg38 22q11.22-11.23(chr22:22655333-23310325)x1
HGVS:
  • NC_000022.11:g.(?_22655333)_(23310325_?)del
  • NC_000022.10:g.(?_22997803)_(23652512_?)del
  • NC_000022.9:g.(?_21327803)_(21982512_?)del
Links:
dbVar: nssv3397002; dbVar: nsv995422
Observations:
1

Condition(s)

Name:
See cases [See the Variation display for details]
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000182846ISCA site 1

See additional submitters

no assertion criteria provided
Uncertain significance
(Sep 27, 2013) 		maternalclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedmaternalyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies.

Miller DT, Adam MP, Aradhya S, Biesecker LG, Brothman AR, Carter NP, Church DM, Crolla JA, Eichler EE, Epstein CJ, Faucett WA, Feuk L, Friedman JM, Hamosh A, Jackson L, Kaminsky EB, Kok K, Krantz ID, Kuhn RM, Lee C, Ostell JM, Rosenberg C, et al.

Am J Hum Genet. 2010 May 14;86(5):749-64. doi: 10.1016/j.ajhg.2010.04.006. Review.

PubMed [citation]
PMID:
20466091
PMCID:
PMC2869000

Details of each submission

From ISCA site 1, SCV000182846.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1maternalyesnot providednot providedDiscovery1not providednot providednot provided

Last Updated: May 7, 2024